Precision medicine and diagnostics company MedGenome, announced that it will develop a proprietary genotyping array designed specifically for large-scale genetic studies of South Asian populations. The South Asian Research Genotyping Array by MedGenome (SARGAM) will leverage the Axiom Genotyping platform from Thermo Fisher Scientific and will also employ MedGenome’s database of 2.5 million variants that are unique to South Asian populations.
“After reviewing available global microarray platforms for population-scale studies, we selected Thermo Fisher Scientific’ Axiom platform for our genotyping service for their best-in-class bioinformatics and array design,” said Dr. Andy Peterson, chief scientific officer for MedGenome, in a press release. “The pairing of this South Asian array with MedGenome’s high-throughput genomics sequencing and data analysis capabilities and their large network of collaborations with hospitals and physicians across India puts MedGenome in a unique position to drive discovery.”
To develop the unique content for SARGAM, MedGenome will use sequencing data it has generated at its Bangalore, India facility in conjunction with Thermo Fisher’s expertise in developing custom arrays leveraging its bioinformatics pipelines. While the overarching goal of the project is to develop a better understanding of disease in this population to develop more targeted diagnostics and medicines, the data generated will also be applicable for ancestry studies of development of pharmacogenomics tools for South Asian populations.
The focus on the South Asian population is the latest effort to create a wider ethnic diversity in the available population databases. To date, the bulk of research on the genetic influence in diseases has focused on European populations, because that is population for which the most data has existed. But disease risk and prevalence vary widely from one ethnic group to the next making the reference genomes derived from people of European ancestry not as useful for population-based studies of other populations.
Other current populations genotyping studies are underway to close this diversity gap, many of which are built on the Axiom platform including Taiwan Biobank and Precision Medicine, Tohoku MegaBiobank, Korea Biobank, FinnGen, UK Biobank, Million Veteran Program. The data derived from this works is the basis of research in polygenic risk scores to identify disease variants and improve health outcomes for individuals at highest risk for disease.
“The creation of this custom South Asian Array—which is only made possible by the rapid adoption of genetic diagnostics and research in India and South Asia in the past few years—marks an inflection point in our ability to leverage the genetic richness embedded in South Asia’s population isolates for discovery. Our endeavor is to accelerate advancements in personalized medicine for complex human diseases,” said Sam Santhosh, founder and CEO of MedGenome.